research 1426 Deletion of hoxc13 in frogs reveals key steps in the molecular evolution of cornified skin appendages
Deleting the Hoxc13 gene in frogs shows its crucial role in developing skin structures similar to hair.
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780-810 / 1000+ results research UVEITIS WITH POLIOSIS, VITILIGO, ALOPECIA AND DYSACOUSIA (VOGT-KOYANAGI SYNDROME)
Vogt-Koyanagi syndrome often leads to partial or complete blindness and responds poorly to treatment.
research Expanding the Phenotypic Spectrum of Olmsted Syndrome
TRPV3 gene mutations cause Olmsted syndrome symptoms, but severity varies.
research An Update of Congenital Adrenal Hyperplasia
Congenital Adrenal Hyperplasia is a genetic disorder with two forms, causing symptoms like early puberty and severe acne, but can be identified through screening and treated with glucocorticoids.
research De novo mutations in monilethrix
Specific keratin gene mutations can cause monilethrix.
research Cutaneous manifestations of metabolic diseases: uncommon presentations
Some skin problems can be signs of diabetes or other metabolic diseases and recognizing them can help diagnose and treat these diseases early.
research C2orf37 mutational spectrum in Woodhouse–Sakati syndrome patients
Truncating mutations in the C2orf37 gene cause Woodhouse–Sakati syndrome.
research Stepwise Surgical Treatment of Gnathophyma
research Mutations in Sterol O-Acyltransferase 1 (Soat1) Result in Hair Interior Defects in AKR/J Mice
A mutation in the Soat1 gene causes hair structure defects and other health issues in AKR/J mice.
research Rickets with Alopecia Signals Vitamin D Dependent Rickets Type II
A child with rickets and hair loss might have a rare type of rickets that doesn't improve much with usual vitamin D and calcium treatment.
research Vitamin D dependent rickets type 2: a case-based review of patient with alopecia and rickets
A rare genetic disease causes rickets and often hair loss in young children, which can improve with specific treatments.
research Dermatologic manifestations of endocrine disorders
Skin problems can be signs of hormone-related disorders and recognizing them early is important for treatment.
research An early diagnosis of trichorhinophalangeal syndrome type 1: a case report and a review of literature
Early diagnosis of Trichorhinophalangeal syndrome type 1 is crucial for treatment and was achieved through clinical examination and family history.
research Characterization of tiger tail banding and hair shaft abnormalities in trichothiodystrophy
Tiger tail banding and hair abnormalities are reliable indicators for diagnosing trichothiodystrophy.
research Netherton Syndrome – Responding to Oral Retinoids
Oral Acitretin effectively resolved symptoms in a child with Netherton syndrome.
research Index of Suspicion
Thorough history and examination are crucial for diagnosing genetic disorders like juvenile polyposis and hypomelanosis of Ito.
research [An infant with short stature and red cheeks (Rothmund-Thomson syndrome)].
The infant was diagnosed with Rothmund-Thomson syndrome, a rare genetic disorder causing various physical and developmental issues.
research Acquired pili torti--a structural hair shaft defect in anorexia nervosa.
Anorexia nervosa may cause a hair defect called pili torti due to malnutrition and high vitamin A levels.
research Follicular dystrophy of immunosuppression
Follicular dystrophy in immunocompromised patients may be linked to medication or viral factors and can improve with treatment changes.
research Pigmentary mosaicism: An update
Pigmentary mosaicism causes skin color changes and can affect multiple body systems, but has no cure.
research Erosive pustular dermatosis of the scalp: a pathogenetic мystery and therapeutic challenge
A rare scalp condition called Erosive pustular dermatosis is hard to diagnose and treat.
research 46,XY DSD due to impaired androgen production
Impaired androgen production in 46,XY DSDs causes ambiguous genitalia and requires long-term care.
research KERATOSIS FOLLICULARIS WITH UNUSUAL INVOLVEMENT OF THE SCALP
A rare case of severe scalp hair loss and nail issues in keratosis follicularis was observed.
research Dermatologic Disorders
Foals can have various skin issues, some genetic, immune-related, or due to infections and allergies.
research Effects of Fetal Exposure to Diazoxide in Man
Fetal exposure to diazoxide can cause hair loss and abnormal hair growth in infants.
research Benign Mucous Membrane Pemphigoid
A 68-year-old woman with benign mucous membrane pemphigoid has eye, mouth, and skin issues, including thick plaques and nail changes.
research A Variable Monilethrix Phenotype Associated With a Novel Mutation, Glu402Lys, in the Helix Termination Motif of the Type II Hair Keratin hHb1
A new mutation, Glu402Lys, in hair keratin is linked to variable symptoms of monilethrix.
research 2,3,7,8-Tetrachlorodibenzo-p-dioxin (TCDD) Affects Keratin 1 and Keratin 17 Gene Expression and Differentially Induces Keratinization in Hairless Mouse Skin
research Hair Defects and Pup Loss in Mice with Targeted Deletion of the First Cut Repeat Domain of theCux/CDPHomeoprotein Gene
Deleting part of a gene in mice causes wavy hair and high pup loss.
research Recessive Mutation in FAM83G Associated with Palmoplantar Keratoderma and Exuberant Scalp Hair
A mutation in the FAM83G gene is linked to skin and hair abnormalities in two related individuals.